Parkinson disease 19B, early-onset
disease diseaseOn this page
Also known as PARK19B
Summary
Parkinson disease 19B, early-onset (MONDO:0800369) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 2
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | Parkinson disease 19B, early-onset |
| Mondo ID | MONDO:0800369 |
| UMLS | C4310802 |
| MedGen | 934769 |
| GARD | 0026528 |
| Is cancer (heuristic) | no |
Also known as: PARK19B
Data availability: 2 ClinVar variants · 6 cell lines.
Disease family
Classification path: human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › basal ganglia disorder › parkinsonian disorder › Parkinson disease › young-onset Parkinson disease › juvenile-onset Parkinson disease › Parkinson disease 19B, early-onset
Related subtypes (2): Kufor-Rakeb syndrome, juvenile onset Parkinson disease 19A
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
2 retrieved; paginated sample, class counts are floors:
1 pathogenic, 1 likely benign
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 253094 | NM_001256864.2(DNAJC6):c.2779A>G (p.Arg927Gly) | DNAJC6 | Pathogenic | no assertion criteria provided |
| 253095 | NM_001256864.2(DNAJC6):c.2223A>T (p.Thr741=) | DNAJC6 | Likely benign | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 2 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| DNAJC6 | Orphanet:2828 | Young-onset Parkinson disease |
| DNAJC6 | Orphanet:391411 | Atypical juvenile parkinsonism |
Cohort genes → proteins
1 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| DNAJC6 | HGNC:15469 | ENSG00000116675 | O75061 | Auxilin | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| DNAJC6 | Auxilin | May act as a protein phosphatase and/or a lipid phosphatase. |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Phosphatase | 1 | 83.9× | 0.012 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| DNAJC6 | Phosphatase | yes | Tyr_Pase_dom, DnaJ_domain, Tensin_C2-dom |
Expression context
Cohort genes with no expression data: 0.
1 cohort gene are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 1 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| Brodmann (1909) area 23 | 1 |
| endothelial cell | 1 |
| substantia nigra pars compacta | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| DNAJC6 | 227 | ubiquitous | marker | endothelial cell, Brodmann (1909) area 23, substantia nigra pars compacta |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| DNAJC6 | 3,784 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| DNAJC6 | O75061 | 64.29 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 6. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Lysosome Vesicle Biogenesis | 1 | 326.3× | 0.010 | DNAJC6 |
| trans-Golgi Network Vesicle Budding | 1 | 253.8× | 0.010 | DNAJC6 |
| Golgi Associated Vesicle Biogenesis | 1 | 200.3× | 0.010 | DNAJC6 |
| Clathrin-mediated endocytosis | 1 | 85.2× | 0.018 | DNAJC6 |
| Membrane Trafficking | 1 | 37.1× | 0.029 | DNAJC6 |
| Vesicle-mediated transport | 1 | 34.8× | 0.029 | DNAJC6 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| regulation of clathrin coat assembly | 1 | 8426.0× | 6e-04 | DNAJC6 |
| synaptic vesicle uncoating | 1 | 5617.3× | 6e-04 | DNAJC6 |
| clathrin coat disassembly | 1 | 4213.0× | 6e-04 | DNAJC6 |
| regulation of clathrin-dependent endocytosis | 1 | 1685.2× | 9e-04 | DNAJC6 |
| intracellular transport | 1 | 1532.0× | 9e-04 | DNAJC6 |
| synaptic vesicle recycling | 1 | 1203.7× | 1e-03 | DNAJC6 |
| clathrin-dependent endocytosis | 1 | 581.1× | 0.002 | DNAJC6 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1
Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| DNAJC6 | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Pharmacogenomics
Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 1 | DNAJC6 |
| E | Difficult family or no structure, no drug | 0 |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| DNAJC6 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: DNAJC6